Linked Data
ClinVar Variation Id:
217645
ClinVar RCV Id:
RCV000201570
dbSNP Id:
rs773954226
gnomAD v2:
8-68092162-G-A
gnomAD v4:
8-67179927-G-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67179927G>A , CM000670.2:g.67179927G>A | GRCh38 |
| NC_000008.10:g.68092162G>A , CM000670.1:g.68092162G>A | GRCh37 |
| NC_000008.9:g.68254716G>A | NCBI36 |
| NG_034100.1:g.120560G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.3286+1G>A (CSPP1) | ENSP00000262210.6:n.3286+1G>A | |
| ENST00000521324.3:c.1288+1G>A (CSPP1) | ||
| ENST00000674993.1:c.3310+1G>A (CSPP1) | ENSP00000502454.1:n.3310+1G>A | |
| ENST00000675306.2:c.2944+1G>A (CSPP1) | ENSP00000502421.1:n.2944+1G>A | |
| ENST00000675869.1:c.3025+1G>A (CSPP1) | ENSP00000502747.1:n.3025+1G>A | |
| ENST00000675955.1:c.3139+1G>A (CSPP1) | ENSP00000501676.1:n.3139+1G>A | |
| ENST00000675990.1:n.4549+1G>A (CSPP1) | ||
| ENST00000676113.1:c.3178+1G>A (CSPP1) | ENSP00000501645.1:n.3178+1G>A | |
| ENST00000676317.1:c.3205+1G>A (CSPP1) | ENSP00000502047.1:n.3205+1G>A | |
| ENST00000676471.1:c.2953+1G>A (CSPP1) | ENSP00000503711.1:n.2953+1G>A | |
| ENST00000676573.1:c.2521+1G>A (CSPP1) | ENSP00000504532.1:n.2521+1G>A | |
| ENST00000676605.1:c.3328+1G>A (CSPP1) | ENSP00000503605.1:n.3328+1G>A | |
| ENST00000676804.1:c.1728+1G>A (CSPP1) | ||
| ENST00000676847.1:c.3199+1G>A (CSPP1) | ENSP00000503336.1:n.3199+1G>A | |
| ENST00000676858.1:c.*1181+1G>A (CSPP1) | ENSP00000502925.1:n.*1181+1G>A | |
| ENST00000676882.1:c.3106+1G>A (CSPP1) | ENSP00000504342.1:n.3106+1G>A | |
| ENST00000676968.1:c.1092+1G>A (CSPP1) | ||
| ENST00000676980.1:n.361+1G>A (CSPP1) | ||
| ENST00000677009.1:c.3141+2201G>A (CSPP1) | ENSP00000503297.1:n.3141+2201G>A | |
| ENST00000677052.1:n.2718+1G>A (CSPP1) | ||
| ENST00000677131.1:c.1092+1G>A (CSPP1) | ||
| ENST00000677256.1:c.*2939+1G>A (CSPP1) | ENSP00000504102.1:n.*2939+1G>A | |
| ENST00000677430.1:c.*812+1G>A (CSPP1) | ENSP00000504177.1:n.*812+1G>A | |
| ENST00000677473.1:c.*1236+1G>A (CSPP1) | ENSP00000503534.1:n.*1236+1G>A | |
| ENST00000677538.1:n.602+1G>A (CSPP1) | ||
| ENST00000677592.1:c.3187+1G>A (CSPP1) | ENSP00000504516.1:n.3187+1G>A | |
| ENST00000677619.1:c.2566+1G>A (CSPP1) | ENSP00000504522.1:n.2566+1G>A | |
| ENST00000677697.1:n.1183+1G>A (CSPP1) | ||
| ENST00000677845.1:c.*1591+1G>A (CSPP1) | ENSP00000503524.1:n.*1591+1G>A | |
| ENST00000677855.1:c.2528+1G>A (CSPP1) | ENSP00000504757.1:n.2528+1G>A | |
| ENST00000677964.1:c.1217+1G>A (CSPP1) | ||
| ENST00000678017.1:c.2071+1G>A (CSPP1) | ENSP00000504394.1:n.2071+1G>A | |
| ENST00000678318.1:c.2755+1G>A (CSPP1) | ENSP00000503690.1:n.2755+1G>A | |
| ENST00000678542.1:c.3328+1G>A (CSPP1) | ENSP00000503878.1:n.3328+1G>A | |
| ENST00000678616.1:c.3220+1G>A (CSPP1) MANE Select | ENSP00000504733.1:n.3220+1G>A | |
| ENST00000678635.1:n.1715+1G>A (CSPP1) | ||
| ENST00000678645.1:c.3097+1G>A (CSPP1) | ENSP00000504031.1:n.3097+1G>A | |
| ENST00000678723.1:c.1092+1G>A (CSPP1) | ||
| ENST00000678747.1:c.2647+1G>A (CSPP1) | ENSP00000503390.1:n.2647+1G>A | |
| ENST00000678834.1:n.725+1G>A (CSPP1) | ||
| ENST00000678895.1:c.1092+1G>A (CSPP1) | ||
| ENST00000679060.1:n.345+1G>A (CSPP1) | ||
| ENST00000679112.1:c.*3119+1G>A (CSPP1) | ENSP00000503739.1:n.*3119+1G>A | |
| ENST00000679226.1:c.2833+4491G>A (CSPP1) | ENSP00000503601.1:n.2833+4491G>A | |
| ENST00000679274.1:n.2144+1G>A (CSPP1) | ||
| ENST00000679295.1:n.2191+1G>A (CSPP1) | ||
| ENST00000262210.9:c.3205+1G>A (CSPP1) | ENSP00000262210.5:n.3205+1G>A | |
| ENST00000518789.5:c.561-4355C>T (ARFGEF1) | ||
| ENST00000519668.1:c.2170+1G>A (CSPP1) | ENSP00000430092.1:n.2170+1G>A | |
| ENST00000520381.5:c.3821-4355C>T (ARFGEF1) | ||
| ENST00000521168.5:n.1210+1G>A (CSPP1) | ||
| ENST00000521324.1:n.501+1G>A (CSPP1) | ||
| NM_001291339.1:c.2170+1G>A (CSPP1) | NP_001278268.1:n.2170+1G>A | |
| NM_024790.6:c.3205+1G>A (CSPP1) | NP_079066.5:n.3205+1G>A | |
| XM_005251136.2:c.5386-4355C>T (ARFGEF1) | XP_005251193.1:n.5386-4355C>T | |
| XM_005251305.3:c.3448+1G>A (CSPP1) | XP_005251362.2:n.3448+1G>A | |
| XM_006716474.2:c.3295+1G>A (CSPP1) | XP_006716537.2:n.3295+1G>A | |
| XM_006716477.2:c.2917+1G>A (CSPP1) | XP_006716540.2:n.2917+1G>A | |
| XM_011517598.1:c.3490+1G>A (CSPP1) | XP_011515900.1:n.3490+1G>A | |
| XM_011517599.1:c.3466+1G>A (CSPP1) | XP_011515901.1:n.3466+1G>A | |
| XM_011517600.1:c.3424+1G>A (CSPP1) | XP_011515902.1:n.3424+1G>A | |
| XM_011517601.1:c.3385+1G>A (CSPP1) | XP_011515903.1:n.3385+1G>A | |
| XM_011517602.1:c.3343+1G>A (CSPP1) | XP_011515904.1:n.3343+1G>A | |
| XM_011517603.1:c.3244+1G>A (CSPP1) | XP_011515905.1:n.3244+1G>A | |
| XM_011517604.1:c.3244+1G>A (CSPP1) | XP_011515906.1:n.3244+1G>A | |
| XM_011517605.1:c.3244+1G>A (CSPP1) | XP_011515907.1:n.3244+1G>A | |
| XM_011517606.1:c.3220+1G>A (CSPP1) | XP_011515908.1:n.3220+1G>A | |
| XM_011517607.1:c.3220+1G>A (CSPP1) | XP_011515909.1:n.3220+1G>A | |
| XM_011517608.1:c.3139+1G>A (CSPP1) | XP_011515910.1:n.3139+1G>A | |
| XM_011517609.1:c.2365+1G>A (CSPP1) | XP_011515911.1:n.2365+1G>A | |
| XM_011517610.1:c.1885+1G>A (CSPP1) | XP_011515912.1:n.1885+1G>A | |
| XM_011517611.1:c.1525+1G>A (CSPP1) | XP_011515913.1:n.1525+1G>A | |
| NM_001363131.1:c.3139+1G>A (CSPP1) | NP_001350060.1:n.3139+1G>A | |
| NM_001363132.1:c.3025+1G>A (CSPP1) | NP_001350061.1:n.3025+1G>A | |
| NM_001363133.1:c.2944+1G>A (CSPP1) | NP_001350062.1:n.2944+1G>A | |
| NM_001364869.1:c.3286+1G>A (CSPP1) | NP_001351798.1:n.3286+1G>A | |
| NM_001364870.1:c.3106+1G>A (CSPP1) | NP_001351799.1:n.3106+1G>A | |
| XM_005251136.4:c.5386-4355C>T (ARFGEF1) | XP_005251193.1:n.5386-4355C>T | |
| XM_005251305.4:c.3448+1G>A (CSPP1) | XP_005251362.2:n.3448+1G>A | |
| XM_006716474.3:c.3295+1G>A (CSPP1) | XP_006716537.2:n.3295+1G>A | |
| XM_006716477.3:c.2917+1G>A (CSPP1) | XP_006716540.2:n.2917+1G>A | |
| XM_011517598.2:c.3490+1G>A (CSPP1) | XP_011515900.1:n.3490+1G>A | |
| XM_011517599.2:c.3466+1G>A (CSPP1) | XP_011515901.1:n.3466+1G>A | |
| XM_011517600.2:c.3424+1G>A (CSPP1) | XP_011515902.1:n.3424+1G>A | |
| XM_011517601.2:c.3385+1G>A (CSPP1) | XP_011515903.1:n.3385+1G>A | |
| XM_011517602.2:c.3343+1G>A (CSPP1) | XP_011515904.1:n.3343+1G>A | |
| XM_011517603.2:c.3244+1G>A (CSPP1) | XP_011515905.1:n.3244+1G>A | |
| XM_011517607.2:c.3220+1G>A (CSPP1) | XP_011515909.1:n.3220+1G>A | |
| XM_011517609.2:c.2365+1G>A (CSPP1) | XP_011515911.1:n.2365+1G>A | |
| XM_011517611.3:c.1525+1G>A (CSPP1) | XP_011515913.1:n.1525+1G>A | |
| XM_017013847.2:c.3349+1G>A (CSPP1) | XP_016869336.1:n.3349+1G>A | |
| XM_017013848.2:c.3325+1G>A (CSPP1) | XP_016869337.1:n.3325+1G>A | |
| XM_017013849.2:c.3286+1G>A (CSPP1) | XP_016869338.1:n.3286+1G>A | |
| XM_017013850.2:c.3244+1G>A (CSPP1) | XP_016869339.1:n.3244+1G>A | |
| XM_017013851.2:c.3097+1G>A (CSPP1) | XP_016869340.1:n.3097+1G>A | |
| XM_017013852.2:c.3091+1G>A (CSPP1) | XP_016869341.1:n.3091+1G>A | |
| XM_017013854.2:c.2893+1G>A (CSPP1) | XP_016869343.1:n.2893+1G>A | |
| XM_017013855.2:c.2659+1G>A (CSPP1) | XP_016869344.1:n.2659+1G>A | |
| XM_017013856.2:c.2566+1G>A (CSPP1) | XP_016869345.1:n.2566+1G>A | |
| XM_017013858.2:c.1732+1G>A (CSPP1) | XP_016869347.1:n.1732+1G>A | |
| XM_024447278.1:c.3220+1G>A (CSPP1) | XP_024303046.1:n.3220+1G>A | |
| XM_024447279.1:c.3139+1G>A (CSPP1) | XP_024303047.1:n.3139+1G>A | |
| XM_024447281.1:c.2944+1G>A (CSPP1) | XP_024303049.1:n.2944+1G>A | |
| XM_024447282.1:c.2647+1G>A (CSPP1) | XP_024303050.1:n.2647+1G>A | |
| XM_024447283.1:c.2323+1G>A (CSPP1) | XP_024303051.1:n.2323+1G>A | |
| XM_024447284.1:c.1885+1G>A (CSPP1) | XP_024303052.1:n.1885+1G>A | |
| NM_001363131.2:c.3139+1G>A (CSPP1) | NP_001350060.1:n.3139+1G>A | |
| NM_001363132.2:c.3025+1G>A (CSPP1) | NP_001350061.1:n.3025+1G>A | |
| NM_001363133.2:c.2944+1G>A (CSPP1) | NP_001350062.1:n.2944+1G>A | |
| NM_001291339.2:c.2170+1G>A (CSPP1) | NP_001278268.1:n.2170+1G>A | |
| NM_001382391.1:c.3220+1G>A (CSPP1) MANE Select | NP_001369320.1:n.3220+1G>A |